Human | SLC2A10 | 81031 | solute carrier family 2 (facilitated glucose transporter), member 10 | GLUT10 deficiency is associated with upregulation of the TGFbeta pathway in the arterial wall, a finding also observed in Loeys-Dietz syndrome, in which aortic aneurysms associate with arterial tortuosity |
Human | XYLT1 | 64131 | xylosyltransferase I | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | RTN4 | 57142 | reticulon 4 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | RETN | 56729 | resistin | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | EFEMP2 | 30008 | EGF containing fibulin-like extracellular matrix protein 2 | Ascending aortic aneurysm |
Human | HPSE | 10855 | heparanase | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | FBLN5 | 10516 | fibulin 5 | Ascending aortic aneurysm |
Human | ADIPOQ | 9370 | adiponectin, C1Q and collagen domain containing | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | PLA2G7 | 7941 | phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | TIMP3 | 7078 | TIMP metallopeptidase inhibitor 3 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | TIMP2 | 7077 | TIMP metallopeptidase inhibitor 2 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | TIMP1 | 7076 | TIMP metallopeptidase inhibitor 1 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | TGFBR2 | 7048 | transforming growth factor, beta receptor II (70/80kDa) | Ascending aortic aneurysm Descending aortic aneurysm (uncommon) |
Human | TGFBR1 | 7046 | transforming growth factor, beta receptor 1 | Ascending aortic aneurysm Descending aortic aneurysm (uncommon) |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | CX3CL1 | 6376 | chemokine (C-X3-C motif) ligand 1 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | PROC | 5624 | protein C (inactivator of coagulation factors Va and VIIIa) | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | PRKCB | 5579 | protein kinase C, beta | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | NOTCH1 | 4851 | notch 1 | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | MYH11 | 4629 | myosin, heavy chain 11, smooth muscle | Dissecting aortic aneurysm |
Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | MMP13 | 4322 | matrix metallopeptidase 13 (collagenase 3) | INFERRED, Score=800, UMLKSK CUI: C0003486 |
Human | MMP12 | 4321 | matrix metallopeptidase 12 (macrophage elastase) | INFERRED, Score=800, UMLKSK CUI: C0003486 |